List of variants reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2C by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp)	rs763248287	0.00058
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe)	rs138880406	0.00039
NM_000231.3(SGCG):c.716C>T (p.Ala239Val)	rs149086397	0.00036
NM_000231.3(SGCG):c.8G>A (p.Arg3His)	rs35105771	0.00031
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys)	rs148404730	0.00027
NM_000231.3(SGCG):c.196-3C>T	rs765273430	0.00016
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)	rs200191311	0.00016
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu)	rs143110015	0.00014
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)	rs202045534	0.00011
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys)	rs148041867	0.00009
NM_000231.3(SGCG):c.506-7T>G	rs774582375	0.00009
NM_000231.3(SGCG):c.142G>A (p.Val48Ile)	rs369936288	0.00008
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu)	rs886042370	0.00006
NM_000231.3(SGCG):c.436G>A (p.Asp146Asn)	rs373442790	0.00006
NM_000231.3(SGCG):c.414A>G (p.Gln138=)	rs770596449	0.00005
NM_000231.3(SGCG):c.371G>T (p.Gly124Val)	rs183204936	0.00004
NM_000231.3(SGCG):c.439G>A (p.Gly147Ser)	rs374836520	0.00004
NM_000231.3(SGCG):c.670A>G (p.Met224Val)	rs372188878	0.00004
NM_000231.3(SGCG):c.784T>C (p.Tyr262His)	rs776357413	0.00004
NM_000231.3(SGCG):c.1-3C>T	rs373335254	0.00003
NM_000231.3(SGCG):c.197C>A (p.Ala66Glu)	rs752603127	0.00003
NM_000231.3(SGCG):c.-126C>A	rs1411409870	0.00002
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg)	rs569816696	0.00002
NM_000231.3(SGCG):c.535G>A (p.Val179Met)	rs139072866	0.00002
NM_000231.3(SGCG):c.623G>T (p.Gly208Val)	rs778119056	0.00002
NM_000231.3(SGCG):c.100C>T (p.Arg34Cys)	rs747549369	0.00001
NM_000231.3(SGCG):c.22A>G (p.Thr8Ala)	rs771657671	0.00001
NM_000231.3(SGCG):c.236G>A (p.Arg79His)	rs375766013	0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=)	rs149595403	0.00001
NM_000231.3(SGCG):c.346C>T (p.Arg116Cys)	rs191040430	0.00001
NM_000231.3(SGCG):c.625G>T (p.Val209Leu)	rs563129062	0.00001
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe)	rs763780768	0.00001
NM_000231.3(SGCG):c.706G>A (p.Val236Met)	rs201788230	0.00001
NM_000231.3(SGCG):c.77T>C (p.Ile26Thr)	rs886043151	0.00001
NM_000231.3(SGCG):c.217G>A (p.Val73Ile)	rs763619480
NM_000231.3(SGCG):c.438C>A (p.Asp146Glu)	rs144497243
NM_000231.3(SGCG):c.485C>A (p.Thr162Lys)	rs770939408
NM_000231.3(SGCG):c.507G>T (p.Gly169=)	rs199905729
NM_000231.3(SGCG):c.529C>T (p.His177Tyr)	rs375592456
NM_000231.3(SGCG):c.551T>G (p.Val184Gly)	rs1593095374
NM_000231.3(SGCG):c.57G>T (p.Glu19Asp)	rs752669226
NM_000231.3(SGCG):c.607A>G (p.Met203Val)	rs1883002488

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